Primary Coenzyme Q10 Deficiency 2
Disease ID: disease_node_17022
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| Dbxref | MIM:614651, ORDO:254898 |
|---|---|
| Subclassof | DOID_0050730 |
| Data Source | DOID |
| Synonyms | COQ10D2, coenzyme Q10 deficiency, primary, 2, deafness-encephaloneuropathy-obesity-valvulopathy syndrome, hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome |
| Doid Label | primary coenzyme Q10 deficiency 2 |
| Doid Description | A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. |
| Disease Node Id | disease_node_17022 |
| Doid Id | DOID_0070239 |
| Disease Has Basis In | SO_0001537 |
| Label | Primary Coenzyme Q10 Deficiency 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Coenzyme Q10 Deficiency Disease(ID:disease_node_17014) (Disease)